Mitochondrial disorders
Gene: POLG
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Sourced from reviewer. Biallelic on G2P for Mitochondrial DNA depletion syndrome 4A. From OMIM: Autosomal recessive for several disorders, but autosomal dominant for Progressive external ophthalmoplegia, autosomal dominant 1.Created: 10 Feb 2016, 9:29 a.m.
Comment on list classification: Both reviewers agree this should be promoted from amber. Confirmed DD gene in G2P.Created: 10 Feb 2016, 9:26 a.m.
Victorian Clinical Genetics Services was added to POLG. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for POLG were set to Progressive external ophthalmoplegia, autosomal recessive, 258450; Progressive external ophthalmoplegia, autosomal dominant, 157640; Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662; Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
Mode of inheritance for POLG was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: Eligibility statement exclusion criteria
Model of inheritance for gene POLG was changed to Unknown
POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN
POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen
POLG was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Radboud University Medical Center, Nijmegen